Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation

Circulation: Cardiovascular Genetics

Volumn 2, Issue 5, 2009, Pages 442-449

  Dellefave, Lisa M ^a   Pytel, Peter ^a   Mewborn, Stephanie ^a   Mora, Bassem ^a   Guris, Deborah L ^a   Fedson, Savitri ^a   Waggoner, Darrel ^a   Moskowitz, Ivan ^a   McNally, Elizabeth M ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Cardiomyopathy; Contractility; Gene mutation; Genetics; Heart failure; Myocardial contraction; Myosin heavy chain; Myosin binding protein C; Sarcomere

Indexed keywords

ALANINE; ARGININE; GLUTAMINE; LEUCINE; MYOSIN BINDING PROTEIN C; PROLINE; TRYPTOPHAN; CARDIAC MYOSIN; CARRIER PROTEIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; MYOSIN-BINDING PROTEIN C;

ADULT; ARTICLE; CASE REPORT; CHILD; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; ECHOCARDIOGRAPHY; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; HEART DISEASE; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICULAR HYPERTRABECULATION; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; MYBPC3 GENE; MYH7 GENE; NEWBORN; NEWBORN DISEASE; ONSET AGE; PRIORITY JOURNAL; SARCOMERE; CLINICAL TRIAL; ECHOGRAPHY; GENETICS; INFANT; MIDDLE AGED; MUTATION; PEDIGREE; PRESCHOOL CHILD;

CARDIAC MYOSINS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; SARCOMERES;

EID: 77949887523     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.109.861955     Document Type: Article

References (33)

1. Bernanke DH, Velkey JM. Development of the coronary blood supply: changing concepts and current ideas. Anat Rec. 2002;269:198-208.
2. Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R. Long-term follow-up of 34 adults with isolated left ventricular noncom- paction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000;36:493-500.
3. de Groot-de Laat LE, Krenning BJ, ten Cate FJ, Roelandt JR. Usefulness of contrast echocardiography for diagnosis of left ventricular noncompaction. Am J Cardiol. 2005;95:1131-1134.
4. Sengupta PP, Mohan JC, Mehta V, Jain V, Arora R, Pandian NG, Khandheria BK. Comparison of echocardiographic features of noncompaction of the left ventricle in adults versus idiopathic dilated cardiomyopathy in adults. Am J Cardiol. 2004;94:389-391.
5. Engberding R, Bender F. Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. Am J Cardiol. 1984;53: 1733-1734.
6. Boyd MT, Seward JB, Tajik AJ, Edwards WD. Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for evaluation of mural thrombi by two-dimensional echocardiography. J Am Coll Cardiol. 1987;9: 323-326.
7. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB; American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113: 1807-1816.
8. Ritter M, Oechslin E, Sutsch G, Attenhofer C, Schneider J, Jenni R. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc. 1997;72:26-31.
9. Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, Hamada H, Hirose O, Isobe T, Yamada K, Kurotobi S, Mito H, Miyake T, Murakami Y, Nishi T, Shinohara M, Seguchi M, Tashiro S, Tomimatsu H. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999;34:233-240.
10. Murphy RT, Thaman R, Blanes JG, Ward D, Sevdalis E, Papra E, Kiotsekolglou A, Tome MT, Pellerin D, McKenna WJ, Elliott PM. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J. 2005;26:187-192. (Pubitemid 40282788)
11. Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990;82:507-513.
12. Bleyl SB, Mumford BR, Thompson V, Carey JC, Pysher TJ, Chin TK, Ward K. Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet. 1997;61: 868-872.
13. Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001;103:1256-1263.
14. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction. J Am Coll Cardiol. 2003;42:2014-2027.
15. Kenton AB, Sanchez X, Coveler KJ, Makar KA, Jimenez S, Ichida F, Murphy RT, Elliott PM, McKenna W, Bowles NE, Towbin JA, Bowles KR. Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12. Mol Genet Metab. 2004;82:162-166.
16. Sasse-Klaassen S, Gerull B, Oechslin E, Jenni R, Thierfelder L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am J Med Genet A. 2003;119A:162-167.
17. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hurlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008;117:2893-2901.
18. Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazon L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J. 2007;28: 1953-1961.
19. Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, Witsenburg M, ten Cate FJ, Simoons ML, Dooijes D. Cardiac beta-myosin heavy chain defects in two families with noncompaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J. 2007;28: 2732-2737.
20. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666-671.
21. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248-1257.
22. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-451.
23. Fernandez-Golfin C, Pachon M, Corros C, Bustos A, Cabeza B, Ferreiros J, de Isla LP, Macaya C, Zamorano J. Left ventricular trabeculae: quantification in different cardiac diseases and impact on left ventricular morphological and functional parameters assessed with cardiac magnetic resonance. J Cardiovasc Med (Hagerstown). In press.
24. Kelley-Hedgepeth A, Towbin JA, Maron MS. Images in cardiovascular medicine. Overlapping phenotypes: left ventricular noncompaction and hypertrophic cardiomyopathy. Circulation. 2009;119:e588-e589.
25. Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS ONE. 2007;2:e1362.
26. Kaneda T, Naruse C, Kawashima A, Fujino N, Oshima T, Namura M, Nunoda S, Mori S, Konno T, Ino H, Yamagishi M, Asano M. A novel beta-myosin heavy chain gene mutation, p.Met531Arg, identified in isolated left ventricular non-compaction in humans, results in left ventricular hypertrophy that progresses to dilation in a mouse model. Clin Sci (Lond). 2008;114:431-440.
27. Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE. Gene mutations in apical hypertrophic cardiomyopathy. Circulation. 2005;112: 2805-2811.
28. Finsterer J, Stollberger C, Gaismayer K, Janssen B. Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol. 2006;106: 420-421. (Pubitemid 41766656)
29. Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, Alders M, van Hagen JM. Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet. 2006;43: 829-832.
30. Stollberger C, Finsterer J. Left ventricular hypertrabeculation/ noncompaction. J Am Soc Echocardiogr. 2004;17:91-100.
31. McConnell BK, Jones KA, Fatkin D, Arroyo LH, Lee RT, Aristizabal O, Turnbull DH, Georgakopoulos D, Kass D, Bond M, Niimura H, Schoen FJ, Conner D, Fischman DA, Seidman CE, Seidman JG. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest. 1999;104:1771.
32. Vu Manh TP, Mokrane M, Georgenthum E, Flavigny J, Carrier L, Semeriva M, Piovant M, Roder L. Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies. Hum Mol Genet. 2005;14:7-17.
33. Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodriguez E, Bouzas B, Alvarez N, Muniz J, Crespo-Leiro M. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol. 2004;94:50-54.